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

dbVar

Database of genomic structural variation

nsv3920818

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:64,877,602

Description:NCBI36/hg18 18p11.21-q23(chr18:16783904-76113881)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: 167028 SVs from 140 studies. See in: genome view

Remapped(Score: Pass):15,380,697-80,258,298

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
nsv3920818	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	15,380,697	15,380,697	80,258,298	80,258,298
nsv3920818	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	15,380,696	15,380,696	78,016,181	78,016,181
nsv3920818	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000018.8	Chr18	15,370,696	16,783,904	76,113,881	76,117,153

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128647	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452512.2, VCV000401071.2	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
nssv15128647	Remapped	Pass	NC_000018.10:g.(15 380697_15380697)_( 80258298_80258298) dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	15,380,697	15,380,697	80,258,298	80,258,298
nssv15128647	Remapped	Good	NC_000018.9:g.(153 80696_15380696)_(7 8016181_78016181)d up	GRCh37.p13	First Pass	NC_000018.9	Chr18	15,380,696	15,380,696	78,016,181	78,016,181
nssv15128647	Submitted genomic		NC_000018.8:g.(153 70696_16783904)_(7 6113881_76117153)d up	NCBI36 (hg18)		NC_000018.8	Chr18	15,370,696	16,783,904	76,113,881	76,117,153

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
nssv15128647	NCBI36: NC_000018.8:g.(15370696_16783904)_(76113881_76117153)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000452512.2, VCV000401071.2	3

No genotype data were submitted for this variant

You are here: NCBI