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dbVar

Database of genomic structural variation

nsv4367261

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:43,952

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: 796 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):189,756,965-189,800,916

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4367261	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	189,756,965	189,800,916
nsv4367261	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NT_187679.1	Chr4\|NT_18 7679.1	405,694	449,645
nsv4367261	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187543.1	Chr4\|NT_18 7543.1	90,518	134,469
nsv4367261	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187650.1	Chr4\|NT_18 7650.1	90,518	134,469
nsv4367261	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	190,678,119	190,722,070

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15640091	copy number gain	14-0112-002	SNP array	Genotyping	14

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15640091	Remapped	Perfect	NT_187679.1:g.(?_4 05694)_(449645_?)d up	GRCh38.p12	Second Pass	NT_187679.1	Chr4\|NT_18 7679.1	405,694	449,645
nssv15640091	Remapped	Perfect	NT_187543.1:g.(?_9 0518)_(134469_?)du p	GRCh38.p12	Second Pass	NT_187543.1	Chr4\|NT_18 7543.1	90,518	134,469
nssv15640091	Remapped	Perfect	NT_187650.1:g.(?_9 0518)_(134469_?)du p	GRCh38.p12	Second Pass	NT_187650.1	Chr4\|NT_18 7650.1	90,518	134,469
nssv15640091	Remapped	Perfect	NC_000004.12:g.(?_ 189756965)_(189800 916_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	189,756,965	189,800,916
nssv15640091	Submitted genomic		NC_000004.11:g.(?_ 190678119)_(190722 070_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	190,678,119	190,722,070

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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