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

dbVar

Database of genomic structural variation

nsv4349819

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:736,294

Description:GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868) AND Split hand-foot malformation 3

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: 2033 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):101,062,818-101,799,111

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4349819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	101,062,818	101,799,111
nsv4349819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	102,822,575	103,558,868

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15605861	copy number gain	Multiple	Multiple	SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; Split hand-foot malformation 3	Pathogenic	ClinVar	RCV000767666.1, VCV000625658.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15605861	Remapped	Perfect	NC_000010.11:g.(?_ 101062818)_(101799 111_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	101,062,818	101,799,111
nssv15605861	Submitted genomic		NC_000010.10:g.(?_ 102822575)_(103558 868_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	102,822,575	103,558,868

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
nssv15605861	GRCh37: NC_000010.10:g.(?_102822575)_(103558868_?)dup	copy number gain	de novo	SPLIT-HAND/FOOT MALFORMATION 3; SHFM3; Split hand-foot malformation 3	Pathogenic	ClinVar	RCV000767666.1, VCV000625658.1

No genotype data were submitted for this variant

You are here: NCBI