A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130570



Internal ID19271408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148375771..148379231hg38UCSC Ensembl
Outerchr7:148072863..148076323hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383461
hg193461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3690n106
Supporting Variantsnssv3991653, nssv3965855
SamplesKWS2, KWS1
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130570
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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