A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029162



Internal ID18771694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72905772..73285582hg38UCSC Ensembl
Innerchr7:72376309..72699584hg19UCSC Ensembl
Innerchr7:72014245..72337520hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38379811
hg19323276
hg18323276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656485
Samples
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE8P, STAG3L1, STAG3L3, TRIM73, TRIM74
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029162
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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