A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664483



Internal ID15054449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143170005..143170113hg38UCSC Ensembl
Innerchr2:143927574..143927682hg19UCSC Ensembl
Innerchr2:143644044..143644152hg18UCSC Ensembl
Innerchr2:143761306..143761414hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38109
hg19109
hg18109
hg17109
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515703
Supporting Variants
Samples
Known GenesARHGAP15
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv664483
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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