A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690309



Internal ID15080275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35728624..35741519hg38UCSC Ensembl
Innerchr19:36219525..36232420hg19UCSC Ensembl
Innerchr19:40911365..40924260hg18UCSC Ensembl
Innerchr19:40911365..40924260hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3812896
hg1912896
hg1812896
hg1712896
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515536
Supporting Variants
Samples
Known GenesIGFLR1, KMT2B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690309
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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