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dbVar

Database of genomic structural variation

nsv6315448

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:31,661,969

Description:GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) AND Hunter-McAlpine craniosynostosis

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: 84859 SVs from 139 studies. See in: genome view

Remapped(Score: Good):149,630,820-181,292,788

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315448	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	149,630,820	181,292,788
nsv6315448	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	149,010,383	180,719,789

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976945	copy number gain	Multiple	Multiple	HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME; Hunter-McAlpine craniosynostosis; Hunter-McAlpine syndrome	Pathogenic	ClinVar	RCV002280612.1, VCV001703528.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976945	Remapped	Good	NC_000005.10:g.(?_ 149630820)_(181292 788_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	149,630,820	181,292,788
nssv17976945	Submitted genomic		NC_000005.9:g.(?_1 49010383)_(1807197 89_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	149,010,383	180,719,789

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
nssv17976945	GRCh37: NC_000005.9:g.(?_149010383)_(180719789_?)dup	copy number gain	unknown	HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME; Hunter-McAlpine craniosynostosis; Hunter-McAlpine syndrome	Pathogenic	ClinVar	RCV002280612.1, VCV001703528.1

No genotype data were submitted for this variant

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