Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3922883

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:3,387,876

Description:NCBI36/hg18 6q14.3-15(chr6:85835807-89169776)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: 8212 SVs from 108 studies. See in: genome view

Remapped(Score: Perfect):85,044,762-88,432,637

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
nsv3922883	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	85,044,762	85,044,762	88,432,637	88,432,637
nsv3922883	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	85,754,480	85,779,088	89,113,057	89,142,356
nsv3922883	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	85,811,199	85,835,807	89,169,776	89,199,075

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126634	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452225.2, VCV000397899.2	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
nssv15126634	Remapped	Perfect	NC_000006.12:g.(85 044762_85044762)_( 88432637_88432637) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	85,044,762	85,044,762	88,432,637	88,432,637
nssv15126634	Remapped	Perfect	NC_000006.11:g.(85 754480_85779088)_( 89113057_89142356) dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	85,754,480	85,779,088	89,113,057	89,142,356
nssv15126634	Submitted genomic		NC_000006.10:g.(85 811199_85835807)_( 89169776_89199075) dup	NCBI36 (hg18)		NC_000006.10	Chr6	85,811,199	85,835,807	89,169,776	89,199,075

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
nssv15126634	NCBI36: NC_000006.10:g.(85811199_85835807)_(89169776_89199075)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000452225.2, VCV000397899.2	3

No genotype data were submitted for this variant

You are here: NCBI