A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699781



Internal ID15089747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227850423..228494048hg38UCSC Ensembl
Innerchr1:228038124..228681749hg19UCSC Ensembl
Innerchr1:226104747..226748372hg18UCSC Ensembl
Innerchr1:224344859..224988484hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38643626
hg19643626
hg18643626
hg17643626
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523935
Supporting Variants
Samples
Known GenesARF1, C1orf145, C1orf35, GJC2, GUK1, HIST3H2A, HIST3H2BB, HIST3H3, IBA57, IBA57-AS1, MIR3620, MIR4666A, MIR5008, MIR6742, MRPL55, OBSCN, RNF187, TRIM11, TRIM17, WNT3A, WNT9A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699781
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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