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dbVar

Database of genomic structural variation

nsv7098071

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,924,675

Description:
See descriptions for individual calls in download files

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: 9693 SVs from 116 studies. See in: genome view

Remapped(Score: Good):136,197,325-138,121,999

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098071	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	136,197,325	138,121,999
nsv7098071	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	139,089,171	141,016,451

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787304	deletion	Multiple	Multiple	Autosomal recessive non syndromic intellectual disability; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15; Mental retardation, autosomal recessive 15	Pathogenic	ClinVar	RCV003122293.2, VCV002423367.4
nssv18791410	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003105304.2, VCV002423367.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787304	Remapped	Good	NC_000009.12:g.(?_ 136197325)_(138121 999_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	136,197,325	138,121,999
nssv18791410	Remapped	Good	NC_000009.12:g.(?_ 136197325)_(138121 999_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	136,197,325	138,121,999
nssv18787304	Submitted genomic		NC_000009.11:g.(?_ 139089171)_(141016 451_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	139,089,171	141,016,451
nssv18791410	Submitted genomic		NC_000009.11:g.(?_ 139089171)_(141016 451_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	139,089,171	141,016,451

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
nssv18787304	GRCh37: NC_000009.11:g.(?_139089171)_(141016451_?)del	deletion	germline	Autosomal recessive non syndromic intellectual disability; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15; Mental retardation, autosomal recessive 15	Pathogenic	ClinVar	RCV003122293.2, VCV002423367.4
nssv18791410	GRCh37: NC_000009.11:g.(?_139089171)_(141016451_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003105304.2, VCV002423367.4

No genotype data were submitted for this variant

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