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dbVar

Database of genomic structural variation

nsv3919212

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:1,682,916

Description:NCBI36/hg18 6q23.3(chr6:136473467-138115066)x3 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: 3766 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):136,091,301-137,774,216

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
nsv3919212	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	136,091,301	136,091,301	137,774,216	137,774,216
nsv3919212	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	136,412,439	136,431,774	138,073,373	138,095,353
nsv3919212	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	136,454,132	136,473,467	138,115,066	138,137,046

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128740	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452693.2, VCV000400238.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128740	Remapped	Perfect	NC_000006.12:g.(13 6091301_136091301) _(137774216_137774 216)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	136,091,301	136,091,301	137,774,216	137,774,216
nssv15128740	Remapped	Perfect	NC_000006.11:g.(13 6412439_136431774) _(138073373_138095 353)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	136,412,439	136,431,774	138,073,373	138,095,353
nssv15128740	Submitted genomic		NC_000006.10:g.(13 6454132_136473467) _(138115066_138137 046)dup	NCBI36 (hg18)		NC_000006.10	Chr6	136,454,132	136,473,467	138,115,066	138,137,046

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
nssv15128740	NCBI36: NC_000006.10:g.(136454132_136473467)_(138115066_138137046)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452693.2, VCV000400238.2	3

No genotype data were submitted for this variant

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