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dbVar

Database of genomic structural variation

nsv3878553

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:156,005,839

Description:
See descriptions for individual calls in download files

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: 234784 SVs from 119 studies. See in: genome view

Remapped(Score: Good):10,262-156,016,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3878553	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	10,262	156,016,100
nsv3878553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	60,262	155,245,765

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15174930	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000753272.2, VCV000616636.2	3
nssv15175296	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000753271.2, VCV000616635.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15174930	Remapped	Good	NC_000023.11:g.(?_ 10262)_(156016100_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	10,262	156,016,100
nssv15175296	Remapped	Good	NC_000023.11:g.(?_ 10262)_(156016100_ ?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	10,262	156,016,100
nssv15174930	Submitted genomic		NC_000023.10:g.(?_ 60262)_(155245765_ ?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	60,262	155,245,765
nssv15175296	Submitted genomic		NC_000023.10:g.(?_ 60262)_(155245765_ ?)del	GRCh37 (hg19)		NC_000023.10	ChrX	60,262	155,245,765

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	Copy number
nssv15174930	GRCh37: NC_000023.10:g.(?_60262)_(155245765_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000753272.2, VCV000616636.2	3
nssv15175296	GRCh37: NC_000023.10:g.(?_60262)_(155245765_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000753271.2, VCV000616635.2	1

No genotype data were submitted for this variant

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