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dbVar

Database of genomic structural variation

nsv3916884

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:1,451,507

Description:NCBI36/hg18 17q11.2(chr17:24169904-25588825)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: 3930 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):28,786,567-30,238,073

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
nsv3916884	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	28,786,567	28,818,760	30,237,681	30,238,073
nsv3916884	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	27,113,585	27,145,778	28,564,699	28,565,091
nsv3916884	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	24,137,711	24,169,904	25,588,825	25,589,217

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124234	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450676.2, VCV000400374.2	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
nssv15124234	Remapped	Perfect	NC_000017.11:g.(28 786567_28818760)_( 30237681_30238073) dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	28,786,567	28,818,760	30,237,681	30,238,073
nssv15124234	Remapped	Perfect	NC_000017.10:g.(27 113585_27145778)_( 28564699_28565091) dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	27,113,585	27,145,778	28,564,699	28,565,091
nssv15124234	Submitted genomic		NC_000017.9:g.(241 37711_24169904)_(2 5588825_25589217)d up	NCBI36 (hg18)		NC_000017.9	Chr17	24,137,711	24,169,904	25,588,825	25,589,217

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
nssv15124234	NCBI36: NC_000017.9:g.(24137711_24169904)_(25588825_25589217)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450676.2, VCV000400374.2	3

No genotype data were submitted for this variant

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