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dbVar

Database of genomic structural variation

nsv7137104

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,450,511

Description:GRCh37/hg19 17q12(chr17:34842545-36293050) AND HNF1B-related disorders

Links to Other Resources

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: 4365 SVs from 101 studies. See in: genome view

Remapped(Score: Good):36,486,701-37,933,506

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7137104	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NC_000017.11	Chr17	36,486,701	37,933,506
nsv7137104	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	721,605	2,172,115
nsv7137104	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	34,842,545	36,293,050

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830819	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV003236721.1, VCV002506537.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830819	Remapped	Perfect	NT_187614.1:g.(?_7 21605)_(2172115_?) del	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	721,605	2,172,115
nssv18830819	Remapped	Good	NC_000017.11:g.(?_ 36486701)_(3793350 6_?)del	GRCh38.p12	Second Pass	NC_000017.11	Chr17	36,486,701	37,933,506
nssv18830819	Submitted genomic		NC_000017.10:g.(?_ 34842545)_(3629305 0_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	34,842,545	36,293,050

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830819	GRCh37: NC_000017.10:g.(?_34842545)_(36293050_?)del	copy number loss	de novo	See cases	Pathogenic	ClinVar	RCV003236721.1, VCV002506537.1

No genotype data were submitted for this variant

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