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dbVar

Database of genomic structural variation

nsv4385758

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:133,032

Publication(s):Zarrei et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 622 SVs from 72 studies. See in: genome view

Remapped(Score: Good):54,508,547-54,641,337

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4385758	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NC_000019.10	Chr19	54,508,547	54,641,337
nsv4385758	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_9	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	490,871	623,902
nsv4385758	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	413,265	546,216
nsv4385758	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	414,748	547,723
nsv4385758	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	55,019,757	55,152,788

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15680674	copy number loss	215270	SNP array	Genotyping	21
nssv15680694	copy number loss	215271	SNP array	Genotyping	21
nssv15694705	copy number loss	211004	SNP array	Genotyping	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15680674	Remapped	Perfect	NT_187693.1:g.(?_4 90871)_(623902_?)d el	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	490,871	623,902
nssv15680694	Remapped	Perfect	NT_187693.1:g.(?_4 90871)_(623902_?)d el	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	490,871	623,902
nssv15694705	Remapped	Perfect	NT_187693.1:g.(?_4 90871)_(623902_?)d el	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	490,871	623,902
nssv15680674	Remapped	Good	NW_003571060.1:g.( ?_413265)_(546216_ ?)del	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	413,265	546,216
nssv15680694	Remapped	Good	NW_003571060.1:g.( ?_413265)_(546216_ ?)del	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	413,265	546,216
nssv15694705	Remapped	Good	NW_003571060.1:g.( ?_413265)_(546216_ ?)del	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	413,265	546,216
nssv15680674	Remapped	Good	NW_003571054.1:g.( ?_414748)_(547723_ ?)del	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	414,748	547,723
nssv15680694	Remapped	Good	NW_003571054.1:g.( ?_414748)_(547723_ ?)del	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	414,748	547,723
nssv15694705	Remapped	Good	NW_003571054.1:g.( ?_414748)_(547723_ ?)del	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	414,748	547,723
nssv15680674	Remapped	Good	NC_000019.10:g.(?_ 54508547)_(5464133 7_?)del	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,508,547	54,641,337
nssv15680694	Remapped	Good	NC_000019.10:g.(?_ 54508547)_(5464133 7_?)del	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,508,547	54,641,337
nssv15694705	Remapped	Good	NC_000019.10:g.(?_ 54508547)_(5464133 7_?)del	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,508,547	54,641,337
nssv15680674	Submitted genomic		NC_000019.9:g.(?_5 5019757)_(55152788 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	55,019,757	55,152,788
nssv15680694	Submitted genomic		NC_000019.9:g.(?_5 5019757)_(55152788 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	55,019,757	55,152,788
nssv15694705	Submitted genomic		NC_000019.9:g.(?_5 5019757)_(55152788 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	55,019,757	55,152,788

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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