A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997159



Internal ID16943425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1106921..1637538hg38UCSC Ensembl
Outerchr1:1042301..1572900hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38530618
hg19530600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950452
Supporting Variants
SamplesBILGI_BIOE
Known GenesACAP3, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1orf159, C1orf233, CCNL2, CDK11B, CPSF3L, DVL1, FAM132A, GLTPD1, LOC148413, LOC254099, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMP23A, MMP23B, MRPL20, MXRA8, PUSL1, SCNN1D, SDF4, SSU72, TAS1R3, TMEM240, TMEM88B, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997159
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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