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dbVar

Database of genomic structural variation

nsv3917795

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:233,044

Description:NCBI36/hg18 2q24.3(chr2:165203999-165398588)x1 AND See cases

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: 703 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):164,617,102-164,850,145

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3917795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	164,617,102	164,639,243	164,833,832	164,850,145
nsv3917795	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	165,473,612	165,495,753	165,690,342	165,706,655
nsv3917795	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	165,181,858	165,203,999	165,398,588	165,414,901

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124941	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000451314.2, VCV000393684.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15124941	Remapped	Perfect	NC_000002.12:g.(16 4617102_164639243) _(164833832_164850 145)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	164,617,102	164,639,243	164,833,832	164,850,145
nssv15124941	Remapped	Perfect	NC_000002.11:g.(16 5473612_165495753) _(165690342_165706 655)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	165,473,612	165,495,753	165,690,342	165,706,655
nssv15124941	Submitted genomic		NC_000002.10:g.(16 5181858_165203999) _(165398588_165414 901)del	NCBI36 (hg18)		NC_000002.10	Chr2	165,181,858	165,203,999	165,398,588	165,414,901

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
nssv15124941	NCBI36: NC_000002.10:g.(165181858_165203999)_(165398588_165414901)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000451314.2, VCV000393684.2	1

No genotype data were submitted for this variant

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