A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607998



Internal ID16048721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102385213..102473462hg38UCSC Ensembl
Innerchr7:102025660..102113909hg19UCSC Ensembl
Innerchr7:101812662..101900914hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3888250
hg1988250
hg1888253
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156558, nssv1091992, nssv1156557
SamplesNINDS_70, NINDS_222
Known GenesALKBH4, LOC100630923, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, PRKRIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607998
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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